CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0003873 Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 174
C0018801 Heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 110
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 110
C0023212 Left-Sided Heart Failure disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 110
C0235527 Heart Failure, Right-Sided disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 110
C1959583 Myocardial Failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 110
C0008370 Cholestasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 99
C0015695 Fatty Liver disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 88
C2711227 Steatohepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 88
C0034069 Pulmonary Fibrosis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 83
C4721507 Alveolitis, Fibrosing disease Respiratory Tract Diseases Disease or Syndrome 83
C0009324 Ulcerative Colitis disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 60
C0024117 Chronic Obstructive Airway Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 33
C1527303 Chronic Airflow Obstruction disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 33
C0017658 Glomerulonephritis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the immune system 31
C1704377 Bright Disease disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31
C0019202 Hepatolenticular Degeneration disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 24
C1527352 Hepatic Form of Wilson Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24
C0013080 Down Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease 19
C0432416 Down Syndrome, Partial Trisomy 21 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19
C0432417 Trisomy 21, Meiotic Nondisjunction disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19
C0751081 Trisomy 21, Mitotic Nondisjunction disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19
C0029172 Oral Submucous Fibrosis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 18
C0004763 Barrett Esophagus disease Digestive System Diseases; Neoplasms Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Neoplasm 16
C0004943 Behcet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 16